• Title/Summary/Keyword: Ring chromosome 9

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Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay (성장부진과 발달지연을 보인 환아에서 확인된 환상 9번 염색체 1례의 세포유전학적인 연구)

  • Park, Yun Mi;Nho, Han Nae;Kim, Sook Za;Ahn, Young Min
    • Clinical and Experimental Pediatrics
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    • v.51 no.4
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    • pp.426-430
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    • 2008
  • We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the subtelomere-specific sequences on chromosome 9p and 9q, revealed 46,XX,r(9)(p24q34),ish r(9)(D9S913-,D9S325+). Failure to detect any hybridization of a probe for the subtelomeric sequences in the ring 9p terminal suggested that this ring arose from breakage in the distal short arm. The cytogenetic and FISH data in our case provided further evidence for the existence of a "complete ring" phenotype with incomplete subtelomeric sequences.

Effect of Rye B chromosome on Meiotic Chromosome Association in Wheat (Triticum aestivum L.) Genetic Background (밀 유전 배경에서 호밀 B 염색체가 감수분열 염색체 접합에 미치는 영향)

  • Cho, Seong-Woo
    • Korean Journal of Plant Resources
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    • v.35 no.5
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    • pp.659-666
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    • 2022
  • The effect of rye B chromosome (rye B) on chromosome association was investigated in meiosis of wheat addition line. The wheat addition line was with one Leymus mollis chromosome and one L. racemosus chromosome which are under homoeologous relationship. Chromosome behavior of the two Leymus chromosomes in wheat genetic background was revealed by genomic in situ hybridization. In the first metaphase, most of the two Leymus chromosomes showed univalent in the wheat addition line without rye B (98.1 ± 0.5%). On the other hand, the wheat addition line with rye B showed higher frequency of bivalent (10.3 ± 0.2%) than wheat addition line without rye B (1.9 ± 0.5%). The wheat addition line without rye B showed abnormal bivalents with abnormal structure while the wheat addition line with rye B showed normal bivalent in low frequency. By rye B, some bivalent was composed of wheat and L. racemosus, and some trivalent was composed of wheat bivalents with L. mollis chromosome. Also, some wheat bivalents showed hyper-crossover, so those wheat bivalents showed abnormal structure compared to other wheat bivalents with normal structure such as ring, rod, and pan.

The Frequency of Chromosomal Aberrations of Peripheral Lymphocytes according to Radiation Dose and Dose Rate (선량 및 선량률 변화에 따른 말초혈액 임파구의 염색체 이상의 빈도)

  • Jeong Tae Sik;Baek Heum Man;Shin Byung Chul;Moon Chang Woo;Kim Mi Hyang;Lee Yong Hwan;Yum Ha Yong
    • Radiation Oncology Journal
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    • v.18 no.2
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    • pp.138-149
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    • 2000
  • Purpose : It was studied that the relationship between radiation dose, dose rate and the frequency of chromosomal aberrations in peripheral lymphocytes. Methods and Materials : Peripheral lymphocytes were irradiated in vitro with 6 MeV X-ray at dose ranges from 50 cGy to 800 cGy. The variations of the frequency of chromosomal aberrations were observed according to different radiation dose rate from 20 cGy/min to 400 cGy/min at constant total dose of 400 cGy which it was considered as factor to correct biological radiation dose measurement. Results : The yields of lymphocytes with chromosomal aberrations (dicentric chromosome, ring chromosome, acentric fragment pairs) are 0% at 50 cGy, 9% at 100 cGy, 20% at 200 cGy, 27% at 300 cGy, 55% at 400 cGy, 88% at 600 cGy, and 100% at 800 cGy. The value of Ydr is 0.000 at 50 cGy, 0.093 at 100 cGy, 0.200 at 200 cGy, 0.354 at 300 cGy, 0.612 at 400 cGy, 2.040 at 600 cGy, and 2.846 at 800 cGy. The relationship between radiation (D) and the frequency of dicentrlc chromosomes and ring Chromosomes (Ydr) can be expressed as Ydr=0.188${\times}$10$^{-2}$ D/Gy+0.422${\times}$10$^{-4}$/Gy$^{2}$${\times}$D$^{2}$ The Value of Qdr is 0.000 at 50 cGy, 1.000 at 100 cGy, 1.000 at 200 cGy, 1.333 at 300 cGy, 1.118 at 400 cGy, 2.318 at 600 cGy, and 2.846 at 800 cGy. When 400 cGy is irradiated with different dose rate each of 20, 40, 60, 80, 100, 160, 240, 320, and 400 cGy/min, Ydr is each of 0.982, 0.837, 0.860, 0.732, 0.763, 0.966, 0.909, 1.006, and 0.806, and Qdr is each of 1.839, 1.555, 1.654, 1.333, 1.381, 1.750, 1.6000, 1.710, and 1.318. Conclusion : There are not the significant variations of Ydr and Qdr values according to different dose rate. And so radiation damage is influenced by total exposed radiation doses and is influenced least of all by different dose rate when it is acute single exposure.

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Chromosomal Aberrations Induced in Human Lymphocytes by in vitro Irradiation with $^{60}Co\;{\gamma}-rays$ (체외 방사선조사시 인체 말초혈액 임파구의 염색체이상 빈도에 관한 연구)

  • Ahn, Yong-Chan;Ha, Sung-Whan
    • Journal of Radiation Protection and Research
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    • v.18 no.2
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    • pp.1-16
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    • 1993
  • As guides to decision-making in the management of the victims in case of acute whole body or partial body radiation exposure, we studied the relationship between radiation dose and the frequency of chromosomal aberrations observed in peripheral lymphocytes that were irradiated in vitro with $^{60}Co\;{\gamma}-rays$ at doses ranging from 2Gy to 12Gy. The yields of cells with unstable chromosomal aberrations (dicentric chromosomes, ring chromosomes, and acentric fragment pairs) were 32% at 2Gy, 47% at 4Gy, 80% at 6Gy, 94% at 8Gy, and 100% at 10Gy and over. Ydr, which reflect average dose to the whole body in case of acute whole body exposure, were 1.373 at 2Gy, 0.669 at 4Gy, 1.734 at 6Gy, 2.773 at 8Gy, 3.746 at 10Gy and 5.454 at 12Gy. The relationship between radiation dose (D) and the frequency of dicentric plus ring chromosomes per cell(Ydr) could be expressed as $Ydr=9.322{\times}10^{-2}/Gy {\times}D+2.975{\times}10^{-2}/Gy^2{\times}D^2$. Qdr, which are used in estimating dose of partial body exposure and dose of past exposure, were 1.166 at 2Gy, 1.436 at 4Gy, 2.173 at 6Gy, 2.945 at 8Gy, 3.746 at 10Gy and 5.454 at 12Gy. To see how confidently this dosimetry system may be used, we obtained Qdr values from those who received one fraction of homogenous partial body irradiation of 1.BGy, 2.5Gy, and 7.OGy therapeutically; in vivo Qdr values were 1.109, 1.222 and 2.222 respectively. The estimated doses calculated from these in vivo Qdr values using the equation $Qdr=Ydr/(1- e^{-Ydr})$ were 1.52Gy, 2.48Gy, and 6.54Gy respectively, which were very close to the doses actually given.

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